Related Experiment Video
Updated: Oct 20, 2026

Modeling Posthemorrhagic Hydrocephalus of Prematurity in Rats
Published on: March 28, 2025
Congenital hydrocephalus internus and aqueduct stenosis: aetiology and implications for genetic counselling
F Haverkamp1, J Wölfle, M Aretz
1Zentrum für Kinderheilkunde der Universität Bonn, Germany.
Unlabelled:
Genetic counselling in families with congenital hydrocephalus internus (CHI) in combination with aqueduct stenosis (AS) is often difficult due to an uncertain aetiology. We present a series of 35 patients with CHI and AS focusing on the aetiology and presumed recurrence risk for siblings. In 13 patients (37.1%) a genetic aetiology was identified with an increased recurrence risk for siblings. The relative frequency of patients with X-linked hydrocephalus in our sample was in accordance with the literature (2/35), but was more frequent in other diseases with Mendelian inheritance.
Conclusion:
In addition to the well-known X-linked and autosomal recessive forms of aqueduct stenosis with hydrocephalus, this malformation can occur in other diseases with Mendelian inheritance. This finding is of considerable importance for genetic counselling and prognosis.
Related Concept Videos
Cerebral Edema ll: Pathophysiology
Cerebral Edema l: Introduction
Mitral Stenosis I: Introduction
Aquaporins
Renal Tubule and Collecting Duct
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
Increased Intracranial Pressure ll: Pathophysiology
